Chuvash polycythemia (CP) is a rare form of congenital polycythemia caused by mutations in the VHL gene. Currently, there are no therapies that have proven effective for CP. Recent studies have demonstrated that VHL (von Hippel-Lindau tumor suppressor) regulates the activity of JAK2 (Janus kinase 2). In mouse models, inhibition of JAK2 reverses the CP phenotype. Therefore, the investigators hypothesize that JAK2 inhibition may have significant clinical benefits for CP patients.

Further study details as provided by Washington University School of Medicine:

Intervention Details:

Drug: Ruxolitinib

Ruxolitinib 10 mg tablets twice daily

Other Name: Jakafi

Detailed Description:

Study involvement will last for 48 weeks. There will be approximately 11 visits through week 48. Visits may take up to 2-3 hours to complete and occur every 4 weeks for the first 24 weeks, then every 12 weeks until week 48.

During each study visit, any or all of the following procedures may occur:

Questionnaires for participant to complete regarding symptoms related to disease.

Ruxolitinib dosing may be increased after 4 weeks if needed. The dose of the ruxolitinib may be reduced related to side effects.

Eligibility

Ages Eligible for Study:

Child, Adult, Senior

Genders Eligible for Study:

Both

Criteria

Inclusion Criteria:

Diagnosis of Chuvash polycythemia

Exclusion Criteria:

Unable to comprehend or unwilling to sign an informed consent form.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01730755